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• W2116111552 abstract "We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database." @default.
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• W2116111552 date "2003-07-14" @default.
• W2116111552 modified "2023-09-26" @default.
• W2116111552 title "BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy" @default.
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• W2116111552 doi "https://doi.org/10.1002/humu.9164" @default.
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